A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971365



Internal ID19246740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122071984..122072051hg38UCSC Ensembl
Outerchr12:122509890..122509957hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122776
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971365
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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